DISEASES

Disease-gene associations mined from literature

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Literature associating PEX5L and rhizomelic chondrodysplasia punctata type 2

PEX5L [ENSP00000419975]

Tetratricopeptide repeat-containing Rab8b-interacting protein; Accessory subunit of hyperpolarization-activated cyclic nucleotide-gated (HCN) channels, regulating their cell-surface expression and cyclic nucleotide dependence; Belongs to the peroxisomal targeting signal receptor family.

Synonyms:  PEX5L,  PEX5Lp,  hPEX5L,  C9IZ09,  C9JB85 ...

Linkouts:  STRING  Pharos  UniProt  OMIM

The disease-gene associations are derived from automatic text mining of the biomedical literature, manually curated database annotations, cancer mutation data, and genome-wide association studies. The confidence of each association is signified by stars, where ★★★★★ is the highest confidence and ★☆☆☆☆ is the lowest.

Developed by Sune Frankild, Alexander Junge, Albert Pallejà, Dhouha Grissa, Kalliopi Tsafou, and Lars Juhl Jensen from the Novo Nordisk Foundation Center for Protein Research.